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References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 18-03-2009
Symbol OSCS
Location Xq11.1
Name osteopathia striata congenita with cranial sclerosis
Corresponding gene FAM123B
Main clinical features
  • cranial sclerosis with frontal bossing, conductive hearing impairment, cleft palate, thoracic dysplasia, mesenterium commune with nonrotation of the gut, anal atresia, developmental delay and seizures
  • increased bone density and craniofacial malformations in females and lethality in males
  • no predisposition to tumor development
  • Genetic determination sex linked
    Function/system disorder osteo-articular
    digestive tract/gastrointestinal
    Type disease
    Remark(s) mutations causative of OSCS result in enhanced WNT signaling (Jenkins 2009)